|
Symbol Name ID |
Nipbl
NIPBL cohesin loading factor MGI:1913976 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormal cardiovascular system morphology |
Atrial septal defect |
Ventricular septal defect |
Cutis marmorata |
| Disease(s) Associated with NIPBL | ||||
| Cornelia de Lange syndrome | ||||
| Cornelia de Lange syndrome 1 |
| Mouse Phenotypes | cardiovascular system phenotype |
abnormal myocardium compact layer morphology |
abnormal ventricle myocardium morphology |
abnormal heart morphology |
heart atrium hypoplasia |
atrial septal defect |
ostium secundum atrial septal defect |
abnormal heart septum morphology |
abnormal interventricular septum morphology |
ventricular septal defect |
small heart |
decreased heart right ventricle size |
|
| Availability | Mouse Genotype | ||||||||||||
| NipblGt(EUCE313f02)1.2Hmgu/Nipbl+ | |||||||||||||
| NipblGt(EUCE313f02)Hmgu/Nipbl+ | |||||||||||||
| NipblGt(RRS564)Byg/Nipbl+ | * | ||||||||||||
| NipblGt(EUCE313f02)1.1Hmgu/Nipbl+ Foxa2tm1(cre)Heli/Foxa2+ (conditional) |
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| H2az2Tg(Wnt1-cre)11Rth/H2az2+ NipblGt(EUCE313f02)1.1Hmgu/Nipbl+ (conditional) |
* | ||||||||||||
| NipblGt(EUCE313f02)1.1Hmgu/Nipbl+ Tg(Tnnt2-cre)5Blh/0 (conditional) |
* | ||||||||||||
| NipblGt(EUCE313f02)1.1Hmgu/Nipbl+ Sox17tm2.1(icre)Heli/Sox17+ (conditional) |
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| NipblGt(EUCE313f02)1.1Hmgu/Nipbl+ Tg(Nanog-cre)#Vlcg/0 (conditional) |
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| NipblGt(EUCE313f02)Hmgu/Nipbl+ Tg(Nanog-cre)#Vlcg/0 (conditional) |
* | ||||||||||||
| NipblGt(EUCE313f02)Hmgu/Nipbl+ Tg(Tnnt2-cre)5Blh/0 (conditional) |
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| NipblGt(EUCE313f02)Hmgu/Nipbl+ Sox17tm2.1(icre)Heli/Sox17+ (conditional) |
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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